ClinVar Miner

List of variants in gene RPS6KC1 reported as uncertain significance for not provided

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Gene type:
ClinVar version:
Total variants: 131
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HGVS dbSNP gnomAD frequency
NM_012424.6(RPS6KC1):c.1480T>C (p.Ser494Pro) rs139942392 0.00090
NM_012424.6(RPS6KC1):c.2576C>A (p.Thr859Asn) rs144436274 0.00043
NM_012424.6(RPS6KC1):c.2776G>A (p.Val926Met) rs180891474 0.00021
NM_012424.6(RPS6KC1):c.1469G>T (p.Gly490Val) rs140824568 0.00016
NM_012424.6(RPS6KC1):c.1124A>G (p.Asn375Ser) rs755203550 0.00009
NM_012424.6(RPS6KC1):c.695C>T (p.Pro232Leu) rs376958657 0.00005
NM_012424.6(RPS6KC1):c.1825G>A (p.Ala609Thr) rs182116576 0.00004
NM_012424.6(RPS6KC1):c.2476T>G (p.Ser826Ala) rs776693648 0.00004
NM_012424.6(RPS6KC1):c.738A>C (p.Leu246Phe) rs746298886 0.00004
NM_012424.6(RPS6KC1):c.1466A>G (p.Asp489Gly) rs186781395 0.00003
NM_012424.6(RPS6KC1):c.2707G>C (p.Glu903Gln) rs756205721 0.00003
NM_012424.6(RPS6KC1):c.1697G>C (p.Arg566Thr) rs756439990 0.00002
NM_012424.6(RPS6KC1):c.1729G>T (p.Asp577Tyr) rs923738046 0.00001
NM_012424.6(RPS6KC1):c.2140A>G (p.Thr714Ala) rs778803830 0.00001
NM_012424.6(RPS6KC1):c.3005A>G (p.Glu1002Gly) rs1295672459 0.00001
NM_012424.6(RPS6KC1):c.3178G>A (p.Asp1060Asn) rs760833758 0.00001
NM_012424.6(RPS6KC1):c.393T>G (p.Asn131Lys) rs763607331 0.00001
NM_012424.6(RPS6KC1):c.506C>T (p.Thr169Ile) rs535231866 0.00001
NM_012424.6(RPS6KC1):c.583C>T (p.Leu195Phe) rs372834454 0.00001
NM_012424.6(RPS6KC1):c.667C>T (p.Arg223Cys) rs755598192 0.00001
NM_012424.6(RPS6KC1):c.850A>G (p.Thr284Ala) rs368914061 0.00001
NC_000001.10:g.(?_213224747)_(213224871_?)del
NC_000001.10:g.(?_213224747)_(213224871_?)dup
NC_000001.10:g.(?_213341181)_(213341336_?)dup
NM_012424.6(RPS6KC1):c.1006G>A (p.Glu336Lys) rs1371867012
NM_012424.6(RPS6KC1):c.1055T>C (p.Val352Ala)
NM_012424.6(RPS6KC1):c.1058T>C (p.Met353Thr)
NM_012424.6(RPS6KC1):c.106-3T>C
NM_012424.6(RPS6KC1):c.1064C>G (p.Thr355Arg)
NM_012424.6(RPS6KC1):c.1066del (p.Arg356fs)
NM_012424.6(RPS6KC1):c.1192G>A (p.Glu398Lys)
NM_012424.6(RPS6KC1):c.121A>G (p.Asn41Asp)
NM_012424.6(RPS6KC1):c.1265G>A (p.Arg422Lys)
NM_012424.6(RPS6KC1):c.1283T>A (p.Phe428Tyr)
NM_012424.6(RPS6KC1):c.1324C>G (p.His442Asp)
NM_012424.6(RPS6KC1):c.1331A>G (p.Gln444Arg)
NM_012424.6(RPS6KC1):c.1364G>T (p.Ser455Ile)
NM_012424.6(RPS6KC1):c.137A>G (p.Gln46Arg)
NM_012424.6(RPS6KC1):c.1454A>T (p.Asn485Ile)
NM_012424.6(RPS6KC1):c.1467T>G (p.Asp489Glu)
NM_012424.6(RPS6KC1):c.1492C>T (p.Pro498Ser) rs529542893
NM_012424.6(RPS6KC1):c.1505C>G (p.Ser502Ter)
NM_012424.6(RPS6KC1):c.1528A>G (p.Thr510Ala)
NM_012424.6(RPS6KC1):c.1532G>A (p.Ser511Asn)
NM_012424.6(RPS6KC1):c.1550A>G (p.Asn517Ser)
NM_012424.6(RPS6KC1):c.1603A>G (p.Met535Val)
NM_012424.6(RPS6KC1):c.1619A>G (p.Asn540Ser)
NM_012424.6(RPS6KC1):c.1622G>A (p.Gly541Asp)
NM_012424.6(RPS6KC1):c.164G>A (p.Ser55Asn)
NM_012424.6(RPS6KC1):c.1660C>T (p.Leu554Phe)
NM_012424.6(RPS6KC1):c.1709T>A (p.Leu570Gln) rs2148940374
NM_012424.6(RPS6KC1):c.1738G>T (p.Ala580Ser)
NM_012424.6(RPS6KC1):c.1756A>G (p.Thr586Ala)
NM_012424.6(RPS6KC1):c.1865A>G (p.Tyr622Cys)
NM_012424.6(RPS6KC1):c.1900A>G (p.Thr634Ala) rs2148942140
NM_012424.6(RPS6KC1):c.1915G>A (p.Asp639Asn)
NM_012424.6(RPS6KC1):c.1921G>T (p.Ala641Ser)
NM_012424.6(RPS6KC1):c.1931G>A (p.Ser644Asn)
NM_012424.6(RPS6KC1):c.1982G>A (p.Ser661Asn)
NM_012424.6(RPS6KC1):c.2026G>T (p.Ala676Ser)
NM_012424.6(RPS6KC1):c.2048G>C (p.Gly683Ala)
NM_012424.6(RPS6KC1):c.214T>C (p.Phe72Leu)
NM_012424.6(RPS6KC1):c.2156G>A (p.Gly719Glu)
NM_012424.6(RPS6KC1):c.2169T>A (p.Asn723Lys)
NM_012424.6(RPS6KC1):c.2188G>A (p.Asp730Asn) rs2094356299
NM_012424.6(RPS6KC1):c.2209A>G (p.Ser737Gly) rs1573542573
NM_012424.6(RPS6KC1):c.2212A>G (p.Thr738Ala)
NM_012424.6(RPS6KC1):c.2246T>C (p.Ile749Thr)
NM_012424.6(RPS6KC1):c.2275A>G (p.Lys759Glu)
NM_012424.6(RPS6KC1):c.2285G>C (p.Ser762Thr) rs570315239
NM_012424.6(RPS6KC1):c.2303A>G (p.Tyr768Cys)
NM_012424.6(RPS6KC1):c.2365A>G (p.Met789Val)
NM_012424.6(RPS6KC1):c.2392A>C (p.Lys798Gln)
NM_012424.6(RPS6KC1):c.2437A>G (p.Asn813Asp)
NM_012424.6(RPS6KC1):c.2459G>A (p.Arg820His)
NM_012424.6(RPS6KC1):c.2470C>A (p.Pro824Thr)
NM_012424.6(RPS6KC1):c.2470C>T (p.Pro824Ser) rs138148824
NM_012424.6(RPS6KC1):c.2477C>T (p.Ser826Leu)
NM_012424.6(RPS6KC1):c.2485A>G (p.Asn829Asp)
NM_012424.6(RPS6KC1):c.2524G>C (p.Glu842Gln)
NM_012424.6(RPS6KC1):c.2589G>T (p.Gln863His) rs2148948938
NM_012424.6(RPS6KC1):c.2609G>A (p.Gly870Asp)
NM_012424.6(RPS6KC1):c.262+6T>C
NM_012424.6(RPS6KC1):c.2629G>C (p.Glu877Gln)
NM_012424.6(RPS6KC1):c.263-2A>G
NM_012424.6(RPS6KC1):c.2692A>G (p.Arg898Gly)
NM_012424.6(RPS6KC1):c.2703C>G (p.Ile901Met)
NM_012424.6(RPS6KC1):c.2711G>A (p.Gly904Asp)
NM_012424.6(RPS6KC1):c.2766A>C (p.Arg922Ser)
NM_012424.6(RPS6KC1):c.2782C>T (p.Arg928Cys)
NM_012424.6(RPS6KC1):c.2783G>A (p.Arg928His) rs750884868
NM_012424.6(RPS6KC1):c.2785G>T (p.Asp929Tyr)
NM_012424.6(RPS6KC1):c.2822-2_2822-1del
NM_012424.6(RPS6KC1):c.2854A>G (p.Ser952Gly) rs2148952851
NM_012424.6(RPS6KC1):c.2880C>G (p.Ser960Arg)
NM_012424.6(RPS6KC1):c.2880C>T (p.Ser960=)
NM_012424.6(RPS6KC1):c.2894_2895del (p.Arg965fs) rs2148953209
NM_012424.6(RPS6KC1):c.2897T>A (p.Met966Lys)
NM_012424.6(RPS6KC1):c.2900A>G (p.Tyr967Cys)
NM_012424.6(RPS6KC1):c.2927C>A (p.Thr976Asn) rs760084367
NM_012424.6(RPS6KC1):c.300A>C (p.Gln100His)
NM_012424.6(RPS6KC1):c.3026A>G (p.Asn1009Ser)
NM_012424.6(RPS6KC1):c.3046A>G (p.Met1016Val)
NM_012424.6(RPS6KC1):c.3052G>C (p.Glu1018Gln)
NM_012424.6(RPS6KC1):c.3074G>A (p.Arg1025His)
NM_012424.6(RPS6KC1):c.3090+3A>G
NM_012424.6(RPS6KC1):c.3160C>T (p.Pro1054Ser)
NM_012424.6(RPS6KC1):c.339del (p.Ala114fs)
NM_012424.6(RPS6KC1):c.350A>C (p.Asn117Thr) rs1178486862
NM_012424.6(RPS6KC1):c.377A>G (p.Lys126Arg)
NM_012424.6(RPS6KC1):c.379_380delinsTT (p.Gly127Phe) rs2148892769
NM_012424.6(RPS6KC1):c.409A>G (p.Ile137Val)
NM_012424.6(RPS6KC1):c.413G>A (p.Gly138Asp) rs2148892938
NM_012424.6(RPS6KC1):c.467C>T (p.Thr156Met)
NM_012424.6(RPS6KC1):c.484G>A (p.Asp162Asn)
NM_012424.6(RPS6KC1):c.536A>G (p.Asp179Gly)
NM_012424.6(RPS6KC1):c.536A>T (p.Asp179Val)
NM_012424.6(RPS6KC1):c.596C>T (p.Ser199Leu)
NM_012424.6(RPS6KC1):c.626C>T (p.Ser209Phe)
NM_012424.6(RPS6KC1):c.656A>T (p.Glu219Val)
NM_012424.6(RPS6KC1):c.679C>T (p.Pro227Ser)
NM_012424.6(RPS6KC1):c.67C>T (p.His23Tyr)
NM_012424.6(RPS6KC1):c.680del (p.Pro227fs) rs1205185843
NM_012424.6(RPS6KC1):c.712G>A (p.Asp238Asn)
NM_012424.6(RPS6KC1):c.853C>T (p.Arg285Cys)
NM_012424.6(RPS6KC1):c.857G>A (p.Arg286Gln)
NM_012424.6(RPS6KC1):c.878C>T (p.Thr293Ile)
NM_012424.6(RPS6KC1):c.87del (p.Tyr30fs)
NM_012424.6(RPS6KC1):c.947C>T (p.Ser316Phe)
NM_012424.6(RPS6KC1):c.951+3A>G
NM_012424.6(RPS6KC1):c.985A>G (p.Asn329Asp)

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